DOCSLIB.ORG

Pediatric and Adult Patients

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Pediatric and Adult Patients ASHLEY// AGE 7 LATER-ONSET SMA TREATED WITH SPINRAZA Individual results may vary based on several factors, including severity of disease, initiation of treatment, and duration of therapy. For the more than 10,000 people who have been treated with SPINRAZA worldwide, victories are personal.* *Based on commercial patients, early access patients, and clinical trial participants through December 2019. INDICATION SPINRAZA® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. SELECTED IMPORTANT SAFETY INFORMATION Increased risk of bleeding complications has been observed after administration of similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. Please see additional Important Safety Information on page 21 and accompanying full Prescribing Information. ABOUT SMA Spinal muscular atrophy starts in the central Because muscle loss is permanent and can nervous system and can affect all the muscles happen quickly in pediatric individuals, it’s in the body. important to treat SMA as soon as possible. Spinal muscular atrophy (SMA) is what’s known as a neuromuscular disease because it affects How quickly can muscle loss occur? It’s hard to say. The rate of motor function loss the motor neurons that power the muscles in the body. SMA is degenerative, which means varies from person to person, and there is no sure way to tell who will experience people who have it will lose muscle strength and function throughout their life. muscle function loss or when. SMA is a genetic disorder caused by a lack of survival motor neuron (SMN) protein, a protein that’s key for muscle development and movement. Genetic testing can confirm an SMA diagnosis. // Motor neurons send signals to muscles from the central nervous system Genetic testing is an important first step in accurately diagnosing (CNS). These neurons need SMN protein in order to work. Without SMN rare diseases like SMA. In cases where a family history of SMA protein, motor neurons die off. With no signals from the CNS, muscles Muscles need exists, or there is reason to suspect SMA, genetic testing can help signals from get weaker and weaker. the CNS expedite or confirm a diagnosis. Genetic testing is also often required to start treatment. Ask your healthcare provider (HCP) for more information about genetic testing. // People with SMA can’t generate enough SMN protein because the survival motor neuron 1 (SMN1) gene is mutated or deleted. SMN1 is mutated in SMA // People with SMA rely on another gene everyone has, SMN2, to make SMN protein. But this gene can only make 10% of the full-length protein—not enough for all the motor neurons. SMA=insufficient SMN protein 3 ABOUT SPINRAZA These are moments and stories. SMA is a disease of the CNS. These are personal victories. SPINRAZA is delivered directly to the CNS. This is SPINRAZA. People with SMA can’t generate enough SMN protein, the protein their motor neurons need to function. That’s where SPINRAZA can help. // Gets to the source of motor neuron loss have been treated with SPINRAZA worldwide* 10,000+ // While you continue on treatment, SPINRAZA helps your body’s SMN protein production *Based on commercial patients, early access patients, and clinical trial participants through December 2019. SPINRAZA specifically targets an underlying cause From 3 days† to 80 years old,‡§ there’s someone from almost every age group who have taken SPINRAZA of muscle weakness People with SMA can’t make enough SMN protein because they have a mutated or deleted †Includes clinical trial patients. ‡ClinicalstudiesofSPINRAZAdidnotincludesufficientnumbersofsubjectsaged65andoldertodetermine survival motor neuron 1 (SMN1) gene. The gene they do have, SMN2, does not produce enough whether they respond differently from younger patients. SMN protein for all the body’s muscles. § Based on commercial patients in the US (including Puerto Rico) through December 2019. HOW SPINRAZA WORKS 9 out of 10 individuals who started on SPINRAZA remain on treatment§ SMN2 GENE Increased § Based on commercial patients in the US (including Puerto Rico) through December 2019. + SMN protein production 7-year old Emma explains how SPINRAZA works. SPINRAZA Watch at SPINRAZA.com/HowSPINRAZAWorks SELECTED IMPORTANT SAFETY INFORMATION Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney, has been observed after administration of similar medicines. Your healthcare provider should perform urine Please see additional Important Safety Information on page 21 testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. and accompanying full Prescribing Information. 5 STUDY OVERVIEW The effect of SPINRAZA on survival, overall motor function, and walking ability has been studied in the longest “ We were facing * some really big and clinical trial program in SMA to date. hard challenges with our girls and we realize that those ENDEAR pivotal study CHERISH pivotal study things may still happen over time, Studied survival without permanent Studied changes in motor function but we feel like we ventilation and motor milestone response in126nonambulatoryindividuals in 121 children with early-onset SMA with later-onset SMA have this tool to fight back with.” —Ruby’s Dad NURTURE supportive study CS2/CS12 supportive study Studied survival without permanent Studied overall safety and changes ventilationin25infantswhohaveyet in motor function in 28 ambulatory to show symptoms of SMA and nonambulatory individuals with RUBY // AGE 6 later-onset SMA LATER-ONSET SMA TREATED WITH SPINRAZA Individual results may vary based on several factors, including severity of disease, initiation of treatment, and duration of therapy. SELECTED IMPORTANT SAFETY INFORMATION The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. *This list does not include all SPINRAZA clinical trials. These are not all of the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. Please see additional Important Safety Information on page 21 Before taking SPINRAZA, tell your healthcare provider if you are pregnant or plan to become pregnant. and accompanying full Prescribing Information. 7 ENDEAR PIVOTAL STUDY Children with SMA experienced improved Those with Type 1 SMA showed survival and motor function. improvements in motor milestones that are ENDEARwasa13-monthstudyin121children≤7monthsofagewithearly-onsetSMA.It rarely, if ever, achieved in untreated children. was a randomized, sham-controlled study, which means children were randomly placed into a treated or untreated group. The study evaluated the effect SPINRAZA has on survival without permanent ventilation and the proportion of “responders,” or children 51% vs 0% untreated were motor milestone responders according to HINE-2 who showed an improvement in motor milestones, according to HINE-2. at 9 months. Motor milestones included: Head control Rolling Independent Standing sitting HINE-2: Section 2 of the Hammersmith Infant Neurological Examination (HINE) is used to assess improvement in motor function. The scale includes activities such as head control, independent sitting, and standing unaided. ASHLEY// AGE 7 LATER-ONSET SMA TREATED WITH SPINRAZA Individual results may vary based on several factors, including reduced risk of mortality severity of disease, initiation of treatment, and duration of therapy. 63% in the SPINRAZA group SELECTED IMPORTANT SAFETY INFORMATION Increased risk of bleeding complications has been observed after administration of similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before Please see additional Important Safety Information on page 21 each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. and accompanying full Prescribing Information. 9 NURTURE SUPPORTIVE STUDY PresymptomaticinfantswithSMAexperiencedsignificant 100%(25/25)ofpresymptomaticinfants improvements in survival and motor function. were alive without permanent ventilation after a median follow-up of 2.9 years in the study. NURTUREisanongoingstudyin25infants≤6weeksofagewhohavenotyetshownsymptomsof SMA. The study evaluated the effect SPINRAZA has on survival without permanent ventilation and motor function development. Limitations included: These results are from the ongoing study, which Most infants achieved the following WHO motor milestones had a small participant size, and the study is open-label, which means all infants received SPINRAZA. at age-appropriate times: 100% 92% 88% 25outof25weresitting 23outof25werewalking 22outof25werewalking without support with assistance independently WHO motor milestones: The World Health Organization motor milestones are a set of six milestones, such as sitting without support, hands-and-knees crawling, and walking alone, expected to be achieved by 2 years of age in healthy children. CAMDEN // AGE 4 PRESYMPTOMATIC SMA TREATED WITH SPINRAZA The natural history of SMA shows infants with Type 1 would not survive Individual results may vary based on several factors, including severity of disease, initiation of treatment, and duration of therapy.
Load more

Recommended publications
  • Voice of the Patient Report for Spinal Muscular Atrophy
    V OICE OF THE PATIENT REPORT A summary report resulting from an Externally-Led Patient Focused Drug Development Meeting reflecting the U.S. Food and Drug Administration (FDA) Patient-Focused Drug Development Initiative Spinal Muscular Atrophy (SMA) Externally Led Public Meeting: April 18, 2017 Report Date: January 10, 2018 Title of Resource: The Voice of the Patient Report for Spinal Muscular Atrophy Authors: Contributors to the collection of the information and development of the document are: Cure SMA: Rosangel Cruz, Megan Lenz, Lisa Belter, Kenneth Hobby, Jill Jarecki Medical Writer: Theo Smart Cruz, Lenz, Belter, Hobby, and Jarecki are all employees of Cure SMA and have no disclosures. Cure SMA has received funding from certain companies for work on projects unrelated to the Patient-Focused Drug Development meeting. Funding Received: The report was funded by grants received from the SMA Industry Collaboration to support Cure SMA’s production and execution of the Externally-Led Patient-Focused Drug Development initiative for SMA and the engagement of an outside medical writing professional to assist in the development, editing, and production of The Voice of the Patient report for SMA. The members of the SMA Industry Collaboration are Astellas Pharmaceuticals, AveXis, Inc., Biogen, Genentech/Roche Pharmaceuticals, Cytokinetics Inc., Novartis Pharmaceuticals, and Ionis Pharmaceuticals, Inc. Version Date: January 10, 2018 Revision Statement: This resource document has not been revised and/or modified in any way after January 10, 2018. Statement of Use: Cure SMA has the necessary permissions to submit the “The Voice of the Patient for SMA” report to the U.S. FDA.
    [Show full text]
  • Spinal Muscular Atrophy
    Spinal Muscular Atrophy U.S. DEPARTMENT OF HEALTHAND HUMAN SERVICES National Institutes of Health Spinal Muscular Atrophy What is spinal muscular atrophy? pinal muscular atrophy (SMA) is a group Sof hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. Motor neurons control movement in the arms, legs, chest, face, throat, and tongue. When there are disruptions in the signals between motor neurons and muscles, the muscles gradually weaken, begin wasting away and develop twitching (called fasciculations). What causes SMA? he most common form of SMA is caused by Tdefects in both copies of the survival motor neuron 1 gene (SMN1) on chromosome 5q. This gene produces the survival motor neuron (SMN) protein which maintains the health and normal function of motor neurons. Individuals with SMA have insufficient levels of the SMN protein, which leads to loss of motor neurons in the spinal cord, producing weakness and wasting of the skeletal muscles. This weakness is often more severe in the trunk and upper leg and arm muscles than in muscles of the hands and feet. 1 There are many types of spinal muscular atrophy that are caused by changes in the same genes. Less common forms of SMA are caused by mutations in other genes including the VAPB gene located on chromosome 20, the DYNC1H1 gene on chromosome 14, the BICD2 gene on chromosome 9, and the UBA1 gene on the X chromosome. The types differ in age of onset and severity of muscle weakness; however, there is overlap between the types.
    [Show full text]
  • ASAH1 Variant Causing a Mild SMA Phenotype with No Myoclonic Epilepsy: a Clinical, Biochemical and Molecular Study
    European Journal of Human Genetics (2016) 24, 1578–1583 & 2016 Macmillan Publishers Limited, part of Springer Nature. All rights reserved 1018-4813/16 www.nature.com/ejhg ARTICLE ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study Massimiliano Filosto*,1, Massimo Aureli2, Barbara Castellotti3, Fabrizio Rinaldi1, Domitilla Schiumarini2, Manuela Valsecchi2, Susanna Lualdi4, Raffaella Mazzotti4, Viviana Pensato3, Silvia Rota1, Cinzia Gellera3, Mirella Filocamo4 and Alessandro Padovani1 ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal muscle weakness and atrophy due to spinal motor neuron degeneration followed by occurrence of severe and intractable myoclonic seizures and death in the teenage years. We studied two subjects, a 30-year-old pregnant woman and her 17-year-old sister, affected with a very slowly progressive non-5q SMA since childhood. No history of seizures or myoclonus has been reported and EEG was unremarkable. The molecular study of ASAH1 gene showed the presence of the homozygote nucleotide variation c.124A4G (r.124a4g) that causes the amino acid substitution p.Thr42Ala. Biochemical evaluation of cultured fibroblasts showed both reduction in ceramidase activity and accumulation of ceramide compared with the normal control. This study describes for the first time the association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA.
    [Show full text]
  • Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening
    Spinal Muscular Informed Consent/Decline for Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening (Continued from other side) Claire Altman Heine Foundation Integrated Genetics has been 1112 Montana Avenue a leader in genetic testing My signature below indicates that I have read, Suite 372 and counseling services for or had read to me, the above information and I Santa Monica, CA 90403 over 25 years. understand it. I have also read or had explained to (310) 260-3262 me the specific disease(s) or condition(s) tested www.clairealtmanheinefoundation.org This brochure is provided for, and the specific test(s) I am having, including by Integrated Genetics as the test descriptions, principles and limitations. Families of Spinal Muscular Atrophy an educational service for 925 Busse Road physicians and their patients. Elk Grove Village, IL 60007 For more information on I have had the opportunity to discuss the purposes (800) 886-1762 our genetic testing and and possible risks of this testing with my doctor or www.fsma.org someone my doctor has designated. I know that counseling services, genetic counseling is available to me before and National Society of Genetic Counselors please visit our web sites: after the testing. I have all the information I want, 401 N. Michigan Avenue www.mytestingoptions.com and all my questions have been answered. Chicago, IL 60611 www.integratedgenetics.com (312) 321-6834 I have decided that: www.nsgc.org References: 1) Prior TW. ACMG Practice Guidelines: Carrier screening for spinal muscular I want SMA carrier testing. Genetic Alliance atrophy. Genet Med 2008; 10:840-842.
    [Show full text]
  • Deletions Causing Spinal Muscular Atrophy Do Not Predispose to Amyotrophic Lateral Sclerosis
    ORIGINAL CONTRIBUTION Deletions Causing Spinal Muscular Atrophy Do Not Predispose to Amyotrophic Lateral Sclerosis Jillian S. Parboosingh, MSc; Vincent Meininger, MD; Diane McKenna-Yasek; Robert H. Brown, Jr, MD; Guy A. Rouleau, MD Background: Amyotrophic lateral sclerosis (ALS) is a ing neurodegeneration in spinal muscular atrophy are rapidly progressive, invariably lethal disease resulting present in patients with ALS in whom the copper/zinc from the premature death of motor neurons of the superoxide dismutase gene is not mutated. motor cortex, brainstem, and spinal cord. In approxi- mately 15% of familial ALS cases, the copper/zinc super- Patients and Methods: Patients in whom ALS oxide dismutase gene is mutated; a juvenile form of was diagnosed were screened for mutations in the familial ALS has been linked to chromosome 2. No SMN and NAIP genes by single strand conformation cause has been identified in the remaining familial ALS analysis. cases or in sporadic cases and the selective neurodegen- erative mechanism remains unknown. Deletions in 2 Results: We found 1 patient with an exon 7 deletion in genes on chromosome 5q, SMN (survival motor neuron the SMN gene; review of clinical status confirmed the mo- gene) and NAIP (neuronal apoptosis inhibitory protein lecular diagnosis of spinal muscular atrophy. No muta- gene), have been identified in spinal muscular atrophy, a tions were found in the remaining patients. disease also characterized by the loss of motor neurons. These genes are implicated in the regulation of apopto- Conclusion: The SMN and NAIP gene mutations are spe- sis, a mechanism that may explain the cell loss found in cific for spinal muscular atrophy and do not predispose the brains and spinal cords of patients with ALS.
    [Show full text]
  • SPINAL MUSCULAR ATROPHY: PATHOLOGY, DIAGNOSIS, CLINICAL PRESENTATION, THERAPEUTIC STRATEGIES & TREATMENTS Content
    SPINAL MUSCULAR ATROPHY: PATHOLOGY, DIAGNOSIS, CLINICAL PRESENTATION, THERAPEUTIC STRATEGIES & TREATMENTS Content 1. DISCLAIMER 2. INTRODUCTION 3. SPINAL MUSCULAR ATROPHY: PATHOLOGY, DIAGNOSIS, CLINICAL PRESENTATION, THERAPEUTIC STRATEGIES & TREATMENTS 4. BIBLIOGRAPHY 5. GLOSSARY OF MEDICAL TERMS 1 SPINAL MUSCULAR ATROPHY: PATHOLOGY, DIAGNOSIS, CLINICAL PRESENTATION, THERAPEUTIC STRATEGIES & TREATMENTS Disclaimer The information in this document is provided for information purposes only. It does not constitute advice on any medical, legal, or regulatory matters and should not be used in place of consultation with appropriate medical, legal, or regulatory personnel. Receipt or use of this document does not create a relationship between the recipient or user and SMA Europe, or any other third party. The information included in this document is presented as a synopsis, may not be exhaustive and is dated November 2020. As such, it may no longer be current. Guidance from regulatory authorities, study sponsors, and institutional review boards should be obtained before taking action based on the information provided in this document. This document was prepared by SMA Europe. SMA Europe cannot guarantee that it will meet requirements or be error-free. The users and recipients of this document take on any risk when using the information contained herein. SMA Europe is an umbrella organisation, founded in 2006, which includes spinal muscular atrophy (SMA) patient and research organisations from across Europe. SMA Europe campaigns to improve the quality of life of people who live with SMA, to bring effective therapies to patients in a timely and sustainable way, and to encourage optimal patient care. SMA Europe is a non-profit umbrella organisation that consists of 23 SMA patients and research organisations from 22 countries across Europe.
    [Show full text]
  • Spinraza (Nusinersen): Communicating Hydrocephalus Not
    31st July 2018 Spinraza▼ (nusinersen): communicating hydrocephalus not related to meningitis or bleeding reported Dear Healthcare Professional, Biogen in agreement with the European Medicines Agency and the Healthcare Products Regulatory Authority (HPRA) would like to inform you of the following: Summary Communicating hydrocephalus not related to meningitis or bleeding has been reported in patients, including children, treated with Spinraza. Some of them were managed with implantation of a ventriculo-peritoneal shunt (VPS). Patients /caregivers should be informed about signs and symptoms of hydrocephalus before Spinraza is started and should seek medical attention in case of: persistent vomiting or headache, unexplained decrease in consciousness, and in children increase in head circumference. Patients with signs and symptoms suggestive of hydrocephalus should be further investigated. In patients with decreased consciousness, increased CSF pressure and infection should be ruled out. There is limited information on the continued effectiveness of Spinraza when a VPS is implanted. Physicians should closely monitor and assess patients who continue to receive Spinraza following placement of a VPS. Patients/caregivers should be informed that the risks and benefits of Spinraza in patients with a VPS are not known. Background on the safety concern Spinraza is a medicine indicated for the treatment of 5q spinal muscular atrophy (SMA). Following an initial regimen of four loading doses over a course of 63 days, it is administered every four months. Spinraza is administered intrathecally by lumbar puncture. Communicating hydrocephalus, not related to meningitis or bleeding, has been reported in patients including children with SMA treated with Spinraza. Given the potential consequences of untreated hydrocephalus, Biogen is alerting physicians involved in the care of SMA patients (such as neurologists and neuropaediatricians) to the potential risk for communicating hydrocephalus associated with Spinraza treatment.
    [Show full text]
  • The Management of Motor Neurone Disease
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.74.suppl_4.iv32 on 1 December 2003. Downloaded from THE MANAGEMENT OF MOTOR NEURONE DISEASE P N Leigh, S Abrahams, A Al-Chalabi, M-A Ampong, iv32 L H Goldstein, J Johnson, R Lyall, J Moxham, N Mustfa, A Rio, C Shaw, E Willey, and the King’s MND Care and Research Team J Neurol Neurosurg Psychiatry 2003;74(Suppl IV):iv32–iv47 he management of motor neurone disease (MND) has evolved rapidly over the last two decades. Although still incurable, MND is not untreatable. From an attitude of nihilism, Ttreatments and interventions that prolong survival have been developed. These treatments do not, however, arrest progression or reverse weakness. They raise difficult practical and ethical questions about quality of life, choice, and end of life decisions. Coordinated multidisciplinary care is the cornerstone of management and evidence supporting this approach, and for symptomatic treatment, is growing.1–3 Hospital based, community rehabilitation teams and palliative care teams can work effectively together, shifting emphasis and changing roles as the needs of the individuals affected by MND evolve. In the UK, MND care centres and regional networks of multidisciplinary teams are being established. Similar networks of MND centres exist in many other European countries and in North America. Here, we review current practice in relation to diagnosis, genetic counselling, the relief of common symptoms, multidisciplinary care, the place of gastrostomy and assisted ventilation, the use of riluzole, and end of life issues. c TERMINOLOGY c Motor neurone disease (MND) is a synonym for amyotrophic lateral sclerosis (ALS).
    [Show full text]
  • Spinal Muscular Atrophy
    Qeios · Definition, November 13, 2019 Ope n Pe e r Re vie w on Qe ios Spinal Muscular Atrophy National Institute of Neurological Disorders and Stroke (NINDS) Source National Institute of Neurological Disorders and Stroke (NINDS). Spinal Muscular Atrophy Information Page. Spinal Muscular Atrophy refers to a group of hereditary diseases that damages and kills specialized nerve cells in the brain and spinal cord (called motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity including speaking, walking, swallowing, and breathing. T he most common form of SMA is caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. T his form of SMA has four types: • T ype l, also called Werdnig-Hoffman disease or infantile-onset SMA, is usually evident before 6 months of age. T he most severely affected children will have reduced movement and chronic shortening of muscles or tendons (called contractures). Other children may have symptoms including reduced muscle tone, lack of tendon reflexes, twitching, skeletal abnormalities, and problems swallowing and feeding. Without treatment, many affected children die before age 2 years. • SMA T ype ll is usually first noticed between the 6 and 18 months of age. Children can sit without support but are unable to stand or walk unaided. Children also may have respiratory difficulties. Life expectancy is reduced but most individuals live into adolescence or young adulthood. • SMA T ype lll (Kugelberg-Welander disease) is seen after age 18 months.
    [Show full text]
  • Diagnosis: Spinal Muscular Atrophy (SMA)
    Diagnosis: Spinal Muscular Atrophy (SMA) Spinal muscular atrophy (SMA) is a genetic disorder that involves the loss of muscle-controlling nerve cells, called motor neurons, in the spinal cord. In SMA, the muscles fail to receive the necessary signals from the nerves. There are several different types of SMA; it can present in both genders and in childhood or adulthood, depending upon the type. Due to the progressive nature of this disease, and the fact that physical fatigue in children with SMA usually impacts them while in the school environment, it is imperative that educational professionals who work with students with SMA be aware of their diagnosis, needs and abilities. It is important that school health officials understand this disease is not contagious and does not pose a health risk to the school. However, absences from school can accumulate due to an increased risk of respiratory illness resulting from respiratory muscle weakness. To learn more about SMA, visit mda.org/disease/spinal-muscular-atrophy. In the school setting, the following aids, interventions and supports are recommended for students with SMA so they are able to fully access their school environment and have the opportunity to excel academically and socially. Physical Therapy Physical therapy enables children with SMA to make maximum use of healthy muscle function, helping them maintain independence and prevent the onset of muscle contractures. This is a list of accommodations students may need during the school day: • Stretching • Range-of-motion exercises • Safety training (on playground, etc.) • Hallway safety • Accommodating activities of daily living (ADLs) to changing physical needs (toileting, lunch/time/cafeteria safety, etc.) • Adapted/modified physical education (see next section) Physical Education (Adapted) Modifications for most activities can be done by consulting with the physical therapist, with the goal of the student’s PE curriculum being recreation, rather than competition or increased strength and endurance.
    [Show full text]
  • Cardiac Pathology in Spinal Muscular Atrophy: a Systematic Review C
    Wijngaarde et al. Orphanet Journal of Rare Diseases (2017) 12:67 DOI 10.1186/s13023-017-0613-5 REVIEW Open Access Cardiac pathology in spinal muscular atrophy: a systematic review C. A. Wijngaarde1*, A. C. Blank2, M. Stam1, R. I. Wadman1, L. H. van den Berg1 and W. L. van der Pol1* Abstract Background: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models. Methods: We systematically reviewed reported cardiac pathology in relation to SMN deficiency. To investigate therelevanceofthepossibleassociationinmoredetail,weused clinical classification systems to characterize structural cardiac defects and arrhythmias. Conclusions: Seventy-two studies with a total of 264 SMA patients with reported cardiac pathology were identified, along with 14 publications on SMA mouse models with abnormalities of the heart. Structural cardiac pathology, mainly septal defects and abnormalities of the cardiac outflow tract, was reported predominantly in the most severely affected patients (i.e. SMA type 1). Cardiac rhythm disorders were most frequently reported in patients with milder SMA types (e.g. SMA type 3). All included studies lacked control groups and a standardized approach for cardiac evaluation.
    [Show full text]
  • HOW TRADITIONAL DEFINITIONS of AUTONOMY IMPAIR DECISION- MAKING in SPINAL MUSCULAR ATROPHY and ALZHEIMER DISEASE a Thesis Submit
    HOW TRADITIONAL DEFINITIONS OF AUTONOMY IMPAIR DECISION- MAKING IN SPINAL MUSCULAR ATROPHY AND ALZHEIMER DISEASE A Thesis Submitted to the Temple University Graduate Board In Partial Fulfillment of the Requirements for the Degree MASTER OF ARTS by Victor Ivan Rivera May 2019 Thesis Approvals: Nora Jones, PhD, Thesis Advisor, Center for Bioethics, Urban Health, and Policy ABSTRACT Clinical decision making is influenced by available literature, technology, and guidelines, but also by cultural expectations, physician experience, and personal biases. The treatment of various forms of disability is especially vulnerable to these prejudices. Alzheimer Dementia (AD) and Spinal Muscular Atrophy (SMA) represent forms of cognitive and physical disability, respectively. In severe forms of both diseases, patients are often unable to communicate and do not meet traditional definitions of autonomy. However, physicians and consensus guidelines adhere to these very same definitions of autonomy, which subsequently disadvantages patients that cannot verbalize. This bias is reflected in available guidelines for catheter-directed thrombectomy for acute ischemic strokes, which passively discourage physicians from treating patients with baseline AD. Inversely, pediatric definitions of autonomy may expose patients to over-treatment with nusinersen, a medication recently approved for the treatment of SMA. Adapting theories of bodily autonomy will allow physicians to approach the treatment of those who cannot verbalize in a more ethical fashion. ii ACKNOWLEDGMENTS I would like to acknowledge the guidance, mentorship, and continuous teaching of Dr. Nora Jones. Without her patience, I would be a much less curious physician. I would also like to acknowledge the mentorship of Dr. Melanie Cosby, who has always supported me throughout my education in medicine and in humanism.
    [Show full text]